Results 111 to 120 of about 5,675,213 (309)
Children\u27s Mercy Hospital Annual Report 2008
, 2009 Annual report for The Children\u27s Mercy Hospital in Kansas City MO, a pediatric medical center.https://scholarlyexchange.childrensmercy.org/cmh-annual-reports/1002/thumbnail ...
Children\u27s Mercy Hospital
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Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Children\u27s Mercy Annual Report 2003
, 2004 Annual report for The Children\u27s Mercy Hospital in Kansas City MO, a pediatric medical center.https://scholarlyexchange.childrensmercy.org/cmh-annual-reports/1014/thumbnail ...
Children\u27s Mercy Hospital
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Let children be children [PDF]
Journal of Paediatrics and Child Health, 2017 openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao +5 more
wiley +1 more source
Children\u27s Mercy Hospital Annual Report 2012
, 2013 Annual report for The Children\u27s Mercy Hospital in Kansas City MO, a pediatric medical center.https://scholarlyexchange.childrensmercy.org/cmh-annual-reports/1006/thumbnail ...
Children\u27s Mercy Hospital
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